The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
ACTN3 (R577X) genotype is associated with fiber type distribution
Abstract
α-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and α-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power performance of elite athletes have been described earlier. About 45% of the fiber type proportions are determined by genetic factors. The ACTN3 variant could be one of the contributing genes in the heritability of fiber type distribution through its interaction with calcineurin. The aim of this study was to quantify the association between the polymorphism and muscle fiber type distribution and fast-velocity knee extension strength. Ninety healthy young men (18–29 y) were genotyped for ACTN3 R577X. Knee extensor strength was measured isometrically (45°) and at different dynamic velocities (100–300°/s) on a programmable dynamometer. Twenty-two XX and twenty-two RR subjects underwent a biopsy of the right vastus lateralis muscle. Fiber type composition was determined by immunohistochemistry. Homozygotes for the R allele show significantly higher relative dynamic quadriceps torques at 300°/s, compared with XX carriers ( P < 0.05). Fiber type characteristics differed significantly between the two genotype groups. The percentage surface and number of type IIx fibers were greater in the RR than the XX genotype group ( P < 0.05), and α-actinin-3 protein content is systematically higher in type IIx compared with type IIa fibers (staining intensity ratio IIx to IIa = 1.17). This study shows that the mechanism, by which the ACTN3 polymorphism has its effect on muscle power, might rely on a control function of fiber type proportions.
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Cites
A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type
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ACTN3 Genotype Is Associated with Human Elite Athletic Performance
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Skeletal muscle hypertrophy is mediated by a Ca2+-dependent calcineurin signalling pathway
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A common nonsense mutation results in α-actinin-3 deficiency in the general population
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Cited by
Fiber Types in Mammalian Skeletal Muscles
Schiaffino, S., & Reggiani, C. (2011) · Physiological Reviews · doi:10.1152/physrev.00031.2010 · Cited by 3,022
MacArthur, D. G., Seto, J. T., Chan, S., Quinlan, K. G. R., Raftery, J. M., Turner, N., Nicholson, M. D., Kee, A. J., Hardeman, E. C., Gunning, P. W., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddm380 · Cited by 287
Heritability estimates of muscle strength-related phenotypes: A systematic review and meta-analysis
Zempo, H., Miyamoto‐Mikami, E., Kikuchi, N., Fuku, N., Miyachi, M., & Murakami, H. (2017) · Scandinavian Journal of Medicine & Science in Sports · doi:10.1111/sms.12804 · Cited by 117
Gene Polymorphisms and Fiber-Type Composition of Human Skeletal Muscle
Ahmetov, I. I., Vinogradova, O. L., & Williams, A. G. (2012) · International Journal of Sport Nutrition and Exercise Metabolism · doi:10.1123/ijsnem.22.4.292 · Cited by 81
Day, N. J., Kelly, S. S., Lui, L., Mansfield, T. A., Gaffrey, M. J., Trejo, J. B., Sagendorf, T. J., Attah, I. K., Moore, R. J., Douglas, C. M., et al. (2024) · Aging Cell · doi:10.1111/acel.14094 · Cited by 31
Metadata
- Authors
- Vincent, B., De Bock, K., Ramaekers, M., Van den Eede, E., Van Leemputte, M., Hespel, P., & Thomis, M. A.
- Venue
- Physiological Genomics
- Publisher
- American Physiological Society
- Published
- 2007-12
- Volume
- 32
- Issue
- 1
- Pages
- 58-63
- ISSN
- 1094-8341 (ISSN-L)
- 1531-2267
- OpenAlex
- W2136460543
- Cited by
- 326
- References
- 24
- FWCI
- 8.04
- Type
- journal article
- Language
- en
- Open access
- closed
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- Vincent, B., De Bock, K., Ramaekers, M., Van den Eede, E., Van Leemputte, M., Hespel, P., & Thomis, M. A. (2007). ACTN3 (R577X) genotype is associated with fiber type distribution. Physiological Genomics. https://doi.org/10.1152/physiolgenomics.00173.2007
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